ArticleEuropean journal of pediatrics2009
Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation.
Article in European journal of pediatrics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.
- Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a 'Treatabolome'.Journal of neuromuscular diseases · 2021Pooled it
- Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.Journal of inherited metabolic disease · 2026Review
- Reshaping the Treatment Landscape of a Galactose Metabolism Disorder.Journal of inherited metabolic disease · 2025Review
- Genetic etiology of progressive pediatric neurological disorders.Pediatric research · 2024Article
- Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia.Journal of inherited metabolic disease · 2022Article
- Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.Orphanet journal of rare diseases · 2020Article
- Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.Orphanet journal of rare diseases · 2018Article
- Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family.Data in brief · 2016Article
- Beneficial effect of feeding a ketogenic diet to mothers on brain development in their progeny with a murine model of pyruvate dehydrogenase complex deficiency.Molecular genetics and metabolism reports · 2016Article
- The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.Journal of inherited metabolic disease · 2015Review
- Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model.JIMD reports · 2015Article
- Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators.Journal of inherited metabolic disease · 2014Review
- Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.Orphanet journal of rare diseases · 2013Article
- The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.Molecular genetics and metabolism · 2012Article
- The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.Molecular genetics and metabolism · 2012Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledThe pyruvate dehydrogenase complex (PDHc) is an intramitochondrial multienzyme system, which plays a key role in aerobic glucose metabolism by catalysing the oxidative decarboxylation of pyruvate to acetyl-CoA. Genetic defects in the PDHc lead to lactic acidemia and neurological abnormalities. In the majority of the cases, the defect appears to reside in the E(1)alpha subunit, the first catalytic component of the complex. The report is on a 6-year-old Portuguese boy with mild neurological involvement and low PDHc activity with absence of E1alpha on immunoblotting analysis. Molecular studies showed a novel and "de novo" mutation in the PDHA1 gene, R253G. Treatment with arginine aspartate showed complete clinical and biochemical recovery. We hypothesise that arginine aspartate acts as a chemical or pharmacological chaperone, and suggest amino acid supplementation as a possible therapy in PDHA1 mutations with mild phenotypes.
conclusionour results encourage the use of amino acid supplementation to overcome the metabolic/biochemical changes induced by PDHA1 gene specific mutations associated with mild PDHc phenotypes.
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